Hypogonadotropic hypogonadism
Gene: PROKR2

PROKR2 (prokineticin receptor 2)
EnsemblGeneIds (GRCh38): ENSG00000101292
EnsemblGeneIds (GRCh37): ENSG00000101292
OMIM: 607123, Gene2Phenotype
PROKR2 is in 7 panels

4 reviews

Richard Quinton (Newcastle University)

Green List (high evidence)

Louise IZATT (GSTT Clinical Genetics Service)

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Changed the mode of inheritance from 'Both' to 'Biallelic', before promoting this panel to version 1 due to internal discussion. It may be that studies reporting monoallelic variants in this gene did not examine fully whether variants in other genes had a second variant and therefore monoallelic variants in this gene may not provide a complete diagnosis.
Created: 28 Oct 2016, 1:22 p.m.

Created: 28 Oct 2016, 1:22 p.m.

Panel version: 0.196

Sarah Leigh (Genomics England Curator)

Comment on mode of inheritance: Based on reports of homozygosity in the variant descriptions on the OMIM page for this gene
Created: 14 Oct 2016, 12:01 p.m.

Comment when marking as ready: Comment when marking as ready: Associated with phenotype in OMIM and not in G2P. Found in 3/4 sources. At least nine variants reported six as heterozygotes, three as compound heterozygotes one of these digenic with a KAL1 (ANOS1) variant. One expert reviewer recommends Green
Created: 13 Oct 2016, 9:22 a.m.

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen
Emory Genetics Laboratory
OMIM

Phenotypes

Hypogonadotropic hypogonadism 3 with or without anosmia, 244200
Endocrine Disorders including conditions such as hypogonadotropic hypogonadism (with or without anosmia): Sequencing Panel (Emory)
Kallmann Syndrome

Tags

monogenic-polygenic

OMIM

607123

Clinvar variants

Variants in PROKR2

Penetrance

Complete

Publications

17054399

Panels with this gene

History Filter Activity

21 Feb 2017, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for PROKR2 were set to 17054399

28 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

28th Oct 2016: This panel was revised after external expert review and internal discussion. For several genes that have been shown to contribute to the disorder in a digenic/polygenic manner, the decision was made to only include genes as green if biallelic variants had been reported independently from other genes. Genes with a monoallelic mechanism, that have been shown in some studies in conjunction with variants in other genes, were made red as monoallelic variants in these genes may not provide a complete diagnosis.

28 Oct 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for PROKR2 was changed to BIALLELIC, autosomal or pseudoautosomal

14 Oct 2016, Gel status: 4